A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717565



Internal ID21743886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:83918107..83918107hg38UCSC Ensembl
chr8:84830342..84830342hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242777, nssv17244924
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5717565
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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